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NM_000041.4(APOE):c.237-4G>T AND Familial hypercholesterolemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002789930.1

Allele description [Variation Report for NM_000041.4(APOE):c.237-4G>T]

NM_000041.4(APOE):c.237-4G>T

Gene:
APOE:apolipoprotein E [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000041.4(APOE):c.237-4G>T
HGVS:
  • NC_000019.10:g.44908529G>T
  • NG_007084.2:g.7748G>T
  • NM_000041.4:c.237-4G>TMANE SELECT
  • NM_001302688.2:c.315-4G>T
  • NM_001302689.2:c.237-4G>T
  • NM_001302690.2:c.237-4G>T
  • NM_001302691.2:c.237-4G>T
  • NC_000019.9:g.45411786G>T
Molecular consequence:
  • NM_000041.4:c.237-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001302688.2:c.315-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001302689.2:c.237-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001302690.2:c.237-4G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001302691.2:c.237-4G>T - intron variant - [Sequence Ontology: SO:0001627]
Functional consequence:
unknown functional consequence
Observations:
1

Condition(s)

Name:
Familial hypercholesterolemia
Identifiers:
MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002820970Kazan State Medical University, Kazan State Medical University
no assertion criteria provided
Uncertain significance
(Apr 26, 2021)
inheritedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Kazan State Medical University, Kazan State Medical University, SCV002820970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024